Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPOCK3_chr4_166728384_167239494	167065037	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02273.hp2 HG00642.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0049 a0001c0001t0002g0051	2	144	0.0139	21	c.190 others(38): Show c.190-2521_190-2501dupTTTTTTTTTTTTTTTTTTTTT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167205530	T T	TTATATAA others(14): Show TTATATAATATATATTATATAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	144	0.0069	21	c.189 others(40): Show c.189+28434_189+28454dupTTATATAATATATATTATATA		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPON1_chr11_13957723_14273133	14130809	C C	CTCACCTA others(14): Show CTCACCTAATTATATATTATTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	224	0.0045	21	c.677 others(38): Show c.677-4607_677-4587dupCCTAATTATATATTATTTTCA		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON2_chr4_1161932_1177583	1176839	G G	GTTCATTC others(14): Show GTTCATTCACACACTTCATTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01074.hp2 others(39): Show HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02735.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0002 a0002c0003 a0003c0004 others(2): Show a0002c0002 a0002c0003 a0003c0004 a0005c0005 a0006c0022	a0002c0002t0001 a0002c0003t0001 a0003c0004t0001 others(2): Show a0002c0002t0001 a0002c0003t0001 a0003c0004t0001 a0005c0005t0001 a0006c0022t0001	a0002c0002t0001g0003 a0002c0003t0001g0015 a0003c0004t0001g0004 others(9): Show a0002c0002t0001g0003 a0002c0003t0001g0015 a0003c0004t0001g0004 a0003c0004t0001g0025 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0033 a0003c0004t0001g0034 a0003c0004t0001g0035 a0005c0005t0001g0067 a0005c0005t0001g0068 a0006c0022t0001g0030	42	432	0.0972	21	c.-43 others(32): Show c.-4320_-4300dupTGAATGAAGTGTGTGAATGAA		SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding					4257		chr4	TogoVar
SPPL3_chr12_120757510_120909358	120830580	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	320	0.0031	21	c.24- others(38): Show c.24-19695_24-19694insTCTCTCTCTCTCTCTCTCTCT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830580	G G	GGGAGAGA others(14): Show GGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0296	1	320	0.0031	21	c.24- others(38): Show c.24-19695_24-19694insTCTCTCTCTCTCTCTCTCTCC		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18988.hp2 NA19057.hp2 others(3): Show HG02698.hp1 NA18988.hp2 NA19057.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0152 a0001c0001t0004g0161 others(3): Show a0001c0001t0004g0125 a0001c0001t0004g0152 a0001c0001t0004g0161 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0182	6	320	0.0188	21	c.23+ others(38): Show c.23+32714_23+32715insTTTTTTTTTTTTTTTTTTTTT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871144	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	320	0.0031	21	c.23+ others(38): Show c.23+32700_23+32701insCTTTTTTTTTTTTTTTTTTTT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPRR2E_chr1_153088135_153099526	153091978	A A	ATTTTTAT others(14): Show ATTTTTATTAAATACTATTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	456	0.0022	21	c.15 others(32): Show c.1554_*1555insATGAATAGTATTTAATAAAAA		SPRR2E	ENSG00000203785.9	transcript	ENST00000368750.8	protein_coding					1156		chr1	TogoVar
SPRR5_chr1_152942206_152954255	152948656	A A	ACAGTGCT others(14): Show ACAGTGCTGCCCCCGACCCCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18971.hp1 NA18973.hp2 NA18990.hp1 others(3): Show NA18971.hp1 NA18973.hp2 NA18990.hp1 NA19003.hp2 NA19005.hp2 NA19078.hp2	a0000 a0006 a0000 a0006	a0000c0013 a0006c0006 a0000c0013 a0006c0006	a0000c0013t0006 a0006c0006t0006 a0000c0013t0006 a0006c0006t0006	a0000c0013t0006g0011 a0006c0006t0006g0010 a0006c0006t0006g0011 a0000c0013t0006g0011 a0006c0006t0006g0010 a0006c0006t0006g0011	6	436	0.0138	21	c.115 others(28): Show c.115_116insGACCCCAGCAGTGCTGCCCCC	p.Pro others(32): Show p.Pro38_Pro39insArgProGlnGlnCysCysPro	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding	2/2	177/762	116/327	39/108		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02683.hp2 HG02723.hp1 others(8): Show HG01106.hp1 HG02683.hp2 HG02723.hp1 NA18970.hp1 NA18989.hp1 NA18995.hp1 NA19056.hp1 NA19064.hp2 NA19075.hp1 NA19086.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0001t0024 a0001c0001t0098 a0001c0001t0107 a0001c0001t0109 a0001c0001t0114 a0001c0001t0129 a0001c0001t0150 a0001c0002t0141	a0001c0001t0001g0214 a0001c0001t0005g0136 a0001c0001t0016g0138 others(8): Show a0001c0001t0001g0214 a0001c0001t0005g0136 a0001c0001t0016g0138 a0001c0001t0024g0133 a0001c0001t0098g0139 a0001c0001t0107g0174 a0001c0001t0109g0135 a0001c0001t0114g0137 a0001c0001t0129g0134 a0001c0001t0150g0231 a0001c0002t0141g0210	11	231	0.0476	21	c.-28 others(40): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2						chrX	TogoVar
SPRY3_chrX_155607586_155787459	155680191	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0026 a0001c0001t0027g0026	1	231	0.0043	21	c.-28 others(42): Show c.-282+67544_-282+67545insGTGTGTGTGTGTGTGTGTGTG		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2						chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767720	A A	AAGAGGAG others(14): Show AAGAGGAGGAGTAGGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0124 a0001c0002t0124	a0001c0002t0124g0196 a0001c0002t0124g0196	1	231	0.0043	21	c.-28 others(38): Show c.-281-232_-281-231insTAGGAGGAGAGAGAGGAGGAG		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767724	G G	GGCGGAGG others(14): Show GGCGGAGGAGGAGGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02738.hp1 HG00280.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0203 a0001c0001t0002g0117 a0001c0001t0001g0203 a0001c0001t0002g0117	2	231	0.0087	21	c.-28 others(38): Show c.-281-237_-281-236insCGGAGGAGGAGGAGAAAGAAG		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767739	A A	AGAAGAGG others(14): Show AGAAGAGGAGGAGGAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0106 a0001c0001t0116g0106	1	231	0.0043	21	c.-28 others(38): Show c.-281-221_-281-220insAGAGGAGGAGGAGAAAGAGGA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CCTTTTTT others(14): Show CCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(12): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG02027.hp1 HG02055.hp2 HG02083.hp1 HG02155.hp1 HG04204.hp2 NA18522.hp2 NA18973.hp2 NA18975.hp1 NA19000.hp1 NA19000.hp2 NA19064.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0041	a0001c0001t0002g0284 a0001c0001t0003g0092 a0001c0001t0003g0184 others(12): Show a0001c0001t0002g0284 a0001c0001t0003g0092 a0001c0001t0003g0184 a0001c0001t0004g0209 a0001c0001t0004g0238 a0001c0001t0004g0259 a0001c0001t0004g0278 a0001c0001t0004g0282 a0001c0001t0004g0322 a0001c0001t0004g0351 a0001c0001t0006g0113 a0001c0001t0007g0165 a0001c0001t0017g0136 a0001c0001t0017g0206 a0001c0001t0041g0314	15	370	0.0405	21	c.694 others(38): Show c.694+4571_694+4572insCTTTTTTTTTTTTTTTTTTTT		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2						chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTATTTT others(14): Show ATTATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	370	0.0027	21	c.258 others(40): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAATAA		SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51						chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02155.hp1 HG04184.hp2 others(6): Show HG00639.hp1 HG02155.hp1 HG04184.hp2 NA18960.hp1 NA18986.hp2 NA19004.hp1 NA19004.hp2 NA19077.hp2 NA19085.hp2	a0001 a0003 a0040 a0001 a0003 a0040	a0001c0001 a0001c0004 a0003c0005 others(1): Show a0001c0001 a0001c0004 a0003c0005 a0040c0091	a0001c0001t0002 a0001c0001t0005 a0001c0004t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0004t0006 a0003c0005t0022 a0040c0091t0002	a0001c0001t0002g0006 a0001c0001t0002g0049 a0001c0001t0002g0050 others(5): Show a0001c0001t0002g0006 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0128 a0001c0001t0005g0116 a0001c0004t0006g0190 a0003c0005t0022g0048 a0040c0091t0002g0059	9	370	0.0243	21	c.258 others(40): Show c.2587+1671_2587+1691dupAAAAAAAAAAAAAAAAAAAAA		SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51						chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18975.hp1 NA18955.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0130 a0001c0001t0001g0064 a0001c0001t0001g0130	2	312	0.0064	21	c.-3- others(36): Show c.-3-5070_-3-5050dupAAAAAAAAAAAAAAAAAAAAA		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0277 a0002c0004t0002g0277	1	312	0.0032	21	c.363 others(38): Show c.363+1434_363+1435insATATATATATATATTTTTTTT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTCTTTTT others(14): Show CTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp2 HG01261.hp1 others(8): Show HG00438.hp2 HG01071.hp2 HG01261.hp1 HG01981.hp1 HG03688.hp2 NA18952.hp1 NA19005.hp2 NA19054.hp1 NA19067.hp2 NA19079.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0033 others(1): Show a0001c0001 a0001c0004 a0001c0033 a0004c0032	a0001c0001t0002 a0001c0001t0004 a0001c0001t0041 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0041 a0001c0004t0007 a0001c0004t0010 a0001c0033t0007 a0004c0032t0004	a0001c0001t0002g0094 a0001c0001t0004g0092 a0001c0001t0004g0125 others(8): Show a0001c0001t0002g0094 a0001c0001t0004g0092 a0001c0001t0004g0125 a0001c0001t0004g0142 a0001c0001t0004g0145 a0001c0001t0041g0247 a0001c0004t0007g0173 a0001c0004t0010g0109 a0001c0004t0010g0348 a0001c0033t0007g0248 a0004c0032t0004g0329	11	370	0.0297	21	c.-48 others(40): Show c.-48+31315_-48+31316insCTTTTTTTTTTTTTTTTTTTT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01256.hp2 others(9): Show HG00408.hp2 HG00423.hp2 HG01256.hp2 HG01361.hp2 HG02071.hp2 HG02622.hp2 HG03516.hp1 HG04228.hp2 NA18956.hp1 NA18969.hp2 NA18985.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0001c0017 a0001c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0005t0003 a0001c0007t0001 a0001c0017t0002 a0001c0019t0012	a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0033 others(9): Show a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0128 a0001c0001t0002g0214 a0001c0001t0004g0001 a0001c0001t0005g0341 a0001c0001t0020g0032 a0001c0005t0003g0004 a0001c0007t0001g0302 a0001c0017t0002g0226 a0001c0019t0012g0246	12	370	0.0324	21	c.-48 others(40): Show c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTTTTT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0200 a0002c0006t0003g0200	1	370	0.0027	21	c.149 others(40): Show c.149-17512_149-17492dupTTTTTTTTTTTTTTTTTTTTT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40562127	G G	GGCACTGG others(14): Show GGCACTGGGGCCCTGGAAACCA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	234	0.0043	21	c.591 others(40): Show c.5915+1725_5915+1745dupGCACTGGGGCCCTGGAAACCA		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	27/35					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01517.hp2 NA18956.hp1 HG01167.hp2 HG01517.hp2 NA18956.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0004 a0001c0022t0004	a0001c0022t0004g0095 a0001c0022t0004g0145 a0001c0022t0004g0251 a0001c0022t0004g0095 a0001c0022t0004g0145 a0001c0022t0004g0251	3	268	0.0112	21	c.660 others(40): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTT		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(14): Show CTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	246	0.0041	21	c.130 others(40): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAGAAA		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77531469	T T	TCCTCCTC others(14): Show TCCTCCTCCCCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01256.hp2 others(1): Show HG01069.hp1 HG01071.hp2 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(1): Show a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008	4	246	0.0163	21	c.130 others(40): Show c.1304-9889_1304-9888insGGGAGGGGGAGGGGGAGGAGG		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77587759	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0132 a0001c0001t0014g0132	1	246	0.0041	21	c.328 others(38): Show c.328-8671_328-8651dupATTATTATTATTATTATTATT		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11						chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18610686	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp2 HG02965.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0253 a0001c0001t0025g0260 a0001c0001t0003g0253 a0001c0001t0025g0260	2	444	0.0045	21	c.196 others(38): Show c.1965-733_1965-732insGTTTTTTTTTTTTTTTTTTTT		SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	5/5						chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01928.hp2 HG02004.hp1 others(20): Show HG00673.hp2 HG01928.hp2 HG02004.hp1 HG02080.hp2 HG02129.hp1 HG02602.hp1 HG03688.hp2 HG03710.hp1 NA18747.hp1 NA18944.hp1 NA18965.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18992.hp1 NA18997.hp2 NA19054.hp1 NA19055.hp1 NA19078.hp1 NA19080.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0013 a0001c0001 a0002c0003 a0008c0013	a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 a0008c0013t0001	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0305 others(19): Show a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0305 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0344 a0001c0001t0001g0348 a0001c0001t0001g0355 a0001c0001t0001g0367 a0001c0001t0006g0306 a0001c0001t0006g0307 a0002c0003t0001g0015 a0002c0003t0001g0057 a0002c0003t0001g0066 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0008c0013t0001g0366	23	444	0.0518	21	c.61- others(36): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTT		SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5						chr11	TogoVar
SQSTM1_chr5_179815905_179843078	179834041	T T	TAAAACTT others(14): Show TAAAACTTAACATGCAGACCAG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	462	0.0022	21	c.116 others(38): Show c.1165+260_1165+280dupAAAACTTAACATGCAGACCAG		SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
SRBD1_chr2_45383680_45616267	45571516	C C	CCAAAAAA others(14): Show CCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp1 HG02818.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0134 a0001c0001t0002g0133 a0001c0001t0001g0134 a0001c0001t0002g0133	2	358	0.0056	21	c.130 others(40): Show c.1305+1670_1305+1690dupTTTTTTTTTTTTTTTTTTTTG		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20						chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01975.hp1 HG00738.hp1 HG01975.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0200 a0003c0003t0001g0004 a0001c0001t0002g0200 a0003c0003t0001g0004	2	358	0.0056	21	c.130 others(40): Show c.1305+1669_1305+1689dupTTTTTTTTTTTTTTTTTTTTT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20						chr2	TogoVar
SRCAP_chr16_30694171_30746409	30730338	C C	CGCTTAAA others(14): Show CGCTTAAACCACAAGAGCATTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014	a0001c0001 a0001c0003 a0001c0005 others(20): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0020 a0001c0024 a0001c0025 a0002c0004 a0002c0013 a0003c0008 a0005c0010 a0006c0009 a0007c0026 a0008c0021 a0009c0019 a0010c0018 a0011c0017 a0013c0022 a0014c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0003t0002 a0001c0005t0001 a0001c0007t0006 a0001c0011t0001 a0001c0014t0001 a0001c0015t0002 a0001c0016t0001 a0001c0020t0002 a0001c0024t0001 a0001c0025t0002 a0002c0004t0001 a0002c0004t0004 a0002c0013t0001 a0003c0008t0002 a0005c0010t0001 a0006c0009t0001 a0007c0026t0001 a0008c0021t0002 a0009c0019t0001 a0010c0018t0001 a0011c0017t0001 a0013c0022t0002 a0014c0023t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(152): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0145 a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0038 a0001c0001t0004g0111 a0001c0001t0005g0010 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0007g0102 a0001c0001t0009g0077 a0001c0001t0010g0141 a0001c0003t0002g0015 a0001c0003t0002g0036 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0105 a0001c0003t0002g0154 a0001c0005t0001g0133 a0001c0005t0001g0134 a0001c0005t0001g0135 a0001c0005t0001g0137 a0001c0007t0006g0026 a0001c0007t0006g0027 a0001c0007t0006g0028 a0001c0011t0001g0151 a0001c0014t0001g0037 a0001c0015t0002g0035 a0001c0016t0001g0152 a0001c0020t0002g0095 a0001c0024t0001g0112 a0001c0025t0002g0049 a0002c0004t0001g0002 a0002c0004t0001g0025 a0002c0004t0004g0002 a0002c0013t0001g0155 a0003c0008t0002g0057 a0003c0008t0002g0098 a0003c0008t0002g0099 a0005c0010t0001g0119 a0005c0010t0001g0128 a0006c0009t0001g0002 a0007c0026t0001g0054 a0008c0021t0002g0093 a0009c0019t0001g0108 a0010c0018t0001g0019 a0011c0017t0001g0009 a0013c0022t0002g0079 a0014c0023t0002g0061	197	208	0.9471	21	c.612 others(38): Show c.6127+766_6127+767insGCTTAAACCACAAGAGCATTT		SRCAP	ENSG00000080603.17	transcript	ENST00000262518.9	protein_coding	27/33						chr16	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTTCGTTT others(14): Show TTTCGTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp1 HG01975.hp2 others(1): Show HG01106.hp1 HG01255.hp1 HG01975.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0002 a0001c0001t0001g0019	4	261	0.0153	21	c.345 others(38): Show c.345+1344_345+1345insGGAAGGAAGGAAGGAAACGAA		SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18						chr17	TogoVar
SRC_chr20_37341140_37411050	37372210	T T	TGTCGCTT others(14): Show TGTCGCTTAGGCTAGTCTTGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(97): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00642.hp1 HG00741.hp1 HG01106.hp2 HG01167.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18962.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18985.hp1 NA18994.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19080.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0043 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0002t0010 a0001c0003t0010 a0001c0003t0023 a0001c0004t0039 a0001c0004t0049 a0001c0007t0041	a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 others(96): Show a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0171 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0001g0264 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0080 a0001c0001t0002g0145 a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0275 a0001c0001t0004g0005 a0001c0001t0004g0103 a0001c0001t0004g0157 a0001c0001t0004g0187 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0204 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0005g0014 a0001c0001t0005g0027 a0001c0001t0005g0042 a0001c0001t0005g0073 a0001c0001t0005g0165 a0001c0001t0005g0169 a0001c0001t0005g0274 a0001c0001t0006g0008 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0236 a0001c0001t0006g0241 a0001c0001t0009g0053 a0001c0001t0009g0194 a0001c0001t0009g0195 a0001c0001t0009g0267 a0001c0001t0010g0273 a0001c0001t0011g0159 a0001c0001t0011g0248 a0001c0001t0011g0249 a0001c0001t0011g0250 a0001c0001t0012g0203 a0001c0001t0012g0205 a0001c0001t0012g0206 a0001c0001t0012g0207 a0001c0001t0013g0051 a0001c0001t0013g0072 a0001c0001t0013g0226 a0001c0001t0014g0138 a0001c0001t0014g0139 a0001c0001t0015g0017 a0001c0001t0015g0192 a0001c0001t0016g0057 a0001c0001t0016g0058 a0001c0001t0020g0043 a0001c0001t0020g0227 a0001c0001t0022g0272 a0001c0001t0024g0271 a0001c0001t0027g0079 a0001c0001t0029g0176 a0001c0001t0033g0170 a0001c0001t0034g0026 a0001c0001t0036g0251 a0001c0001t0037g0166 a0001c0001t0040g0012 a0001c0001t0043g0235 a0001c0001t0047g0238 a0001c0001t0048g0168 a0001c0001t0050g0191 a0001c0001t0051g0056 a0001c0002t0010g0009 a0001c0002t0010g0010 a0001c0003t0010g0222 a0001c0003t0023g0265 a0001c0004t0039g0237 a0001c0004t0049g0263 a0001c0007t0041g0011	100	282	0.3546	21	c.-17 others(40): Show c.-173+6933_-173+6934insGTCGCTTAGGCTAGTCTTGAA		SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13						chr20	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0294 a0001c0001t0015g0294	1	352	0.0028	21	c.91+ others(36): Show c.91+7521_91+7522insATATATATATATATATATATT		SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18						chr17	TogoVar
SREK1IP1_chr5_64713148_64773691	64727554	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0070 a0001c0003t0008g0070	1	342	0.0029	21	c.278 others(36): Show c.278+552_278+553insTATATATATATATATATATAT		SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4						chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02615.hp2 others(2): Show HG02055.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0011 a0001c0003t0005g0045 a0001c0003t0005g0046 others(1): Show a0001c0003t0005g0011 a0001c0003t0005g0045 a0001c0003t0005g0046 a0001c0003t0005g0047	5	342	0.0146	21	c.206 others(38): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTT		SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4						chr5	TogoVar
SRF_chr6_43166269_43186506	43177228	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02809.hp1 HG01243.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0028 a0001c0001t0012g0028 a0001c0001t0007g0028 a0001c0001t0012g0028	2	356	0.0056	21	c.116 others(38): Show c.1162+578_1162+579insTTTTTTTTTTTTTTTTTTTTT		SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63951152	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0133 a0001c0007t0133	a0001c0007t0133g0103 a0001c0007t0133g0103	1	170	0.0059	21	c.68- others(38): Show c.68-32786_68-32766dupTTTTTTTTTTTTTTTTTTTTT		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64144233	T T	TTTGTTGT others(14): Show TTTGTTGTTGTTGTTGTTGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01361.hp1 HG02132.hp1 others(19): Show HG01243.hp2 HG01361.hp1 HG02132.hp1 HG02257.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03239.hp1 HG03492.hp2 NA18522.hp1 NA18971.hp1 NA18984.hp1 NA18988.hp2 NA19057.hp1 NA19060.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0010 a0001c0001t0086 a0001c0001t0092 others(15): Show a0001c0001t0010 a0001c0001t0086 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0101 a0001c0001t0140 a0001c0003t0001 a0001c0003t0088 a0001c0003t0089 a0001c0003t0090 a0001c0003t0100 a0002c0004t0091	a0001c0001t0010g0157 a0001c0001t0086g0102 a0001c0001t0092g0105 others(19): Show a0001c0001t0010g0157 a0001c0001t0086g0102 a0001c0001t0092g0105 a0001c0001t0093g0033 a0001c0001t0094g0052 a0001c0001t0095g0010 a0001c0001t0096g0064 a0001c0001t0097g0022 a0001c0001t0098g0130 a0001c0001t0099g0074 a0001c0001t0101g0123 a0001c0001t0140g0092 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0065 a0001c0003t0001g0079 a0001c0003t0001g0081 a0001c0003t0088g0066 a0001c0003t0089g0160 a0001c0003t0090g0009 a0001c0003t0100g0014 a0002c0004t0091g0032	22	170	0.1294	21	c.15 others(32): Show c.1562_*1582dupTTGTTGTTGTTGTTGTTGTTG		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22				1583	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64150934	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG03927.hp2 HG02451.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0114 a0001c0006t0084 a0001c0001t0114 a0001c0006t0084	a0001c0001t0114g0121 a0001c0006t0084g0018 a0001c0001t0114g0121 a0001c0006t0084g0018	2	170	0.0118	21	c.82 others(32): Show c.8268_*8288dupAAAAAAAAAAAAAAAAAAAAA		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22				8289	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRMS_chr20_63533489_63552749	63536007	A A	ACTGGCCT others(14): Show ACTGGCCTCCGCCCCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0017	1	356	0.0028	21	c.48 others(32): Show c.4810_*4811insAGAGGAGGGGGCGGAGGCCAG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2481		chr20	TogoVar
SRP54_chr14_34977992_35034567	35007674	T T	TTAAAATA others(14): Show TTAAAATATATTTATATTATAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	396	0.0025	21	c.360 others(36): Show c.360+300_360+301insTATTATAATAAAATATATTTA		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35014290	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp1 HG02135.hp2 others(15): Show HG00597.hp2 HG02056.hp1 HG02135.hp2 HG02486.hp1 NA18943.hp1 NA18955.hp2 NA18964.hp1 NA18966.hp2 NA18979.hp2 NA18988.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19006.hp1 NA19054.hp1 NA19070.hp1 NA19083.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0303 others(15): Show a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0303 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0340 a0001c0001t0002g0351 a0001c0001t0002g0369 a0001c0001t0002g0382 a0001c0001t0002g0386	18	396	0.0455	21	c.886 others(36): Show c.886+392_886+393insTTTTTTTTTTTTTTTTGTTTT		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062503	A A	ATATATAA others(14): Show ATATATAATATACATTATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01433.hp2 others(7): Show HG00323.hp2 HG01167.hp1 HG01433.hp2 HG01891.hp1 HG02647.hp2 HG04228.hp1 NA18906.hp1 NA19043.hp1 NA19081.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0009 a0001c0001t0002g0085 a0001c0001t0002g0098 others(6): Show a0001c0001t0002g0009 a0001c0001t0002g0085 a0001c0001t0002g0098 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0175 a0001c0001t0002g0183 a0001c0002t0001g0197 a0001c0002t0001g0199	10	365	0.0274	21	c.562 others(36): Show c.562-950_562-930dupATATATAATGTATATTATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062545	T T	TTATATAA others(14): Show TTATATAATATACATTATATAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03225.hp1 HG02895.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0328 a0001c0002t0001g0329	2	365	0.0055	21	c.562 others(36): Show c.562-972_562-971insTTATATAATGTATATTATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062575	A A	ATACATTA others(14): Show ATACATTATATATTATATAATG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	365	0.0027	21	c.562 others(38): Show c.562-1002_562-1001insCATTATATAATATATAATGTA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062587	A A	ATATATAA others(14): Show ATATATAATATACATTATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02071.hp2 HG02080.hp1 others(25): Show HG00673.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 NA18950.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18977.hp1 NA18983.hp2 NA18990.hp1 NA18997.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19058.hp2 NA19063.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19087.hp1 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0204 others(21): Show a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0204 a0001c0002t0001g0214 a0001c0002t0001g0218 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0247 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0263 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0336 a0001c0002t0004g0220	28	365	0.0767	21	c.562 others(38): Show c.562-1034_562-1014dupATATATAATGTATATTATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)